Carter Syndrome

Classification according to ICD-10
Q74.8	Other specified congenital malformations of the extremity (s)
ICD-10 online (WHO version 2019)

The Fuhrmann syndrome or Fuhrman-Rieger-de-Sousa syndrome is a very rare genetic disease with a combination of underdevelopment of the fibula (fibula hypoplasia), curvature of the thigh bone (femur) and changes of the fingers ( oligodactyly ).

The name refers to the first description from 1980 by the human geneticist Walter Fuhrmann (1924–1995) and his colleagues from Giessen .

distribution

The frequency is given as less than 1 in 1,000,000, so far about 11 patients have been described. The inheritance is presumably autosomal - recessive .

root cause

The disease is based on mutations in the WNT7A gene at location 3p25.1 with a partial loss of function of the WNT7A protein. However, patients without this mutation have also been reported.

Mutations in this gene are also found in Al-Awadi-Raas-Rothschild syndrome .

Clinical manifestations

Clinical criteria are:

Curvature of the femur
Aplasia or hypoplasia of the fibula
Poly- , oligo- and syndactyly .

In addition, there is often a hypoplasia of the pelvis and the fingers and fingernails, sometimes also a congenital hip dislocation, absence or fusion of the tarsal bones and toes.

Differential diagnosis

Other mutations in the same gene are found in Schinzel type phocomelia (or Al-Awadi-Raas-Rothschild syndrome).

therapy

In the event of a surgical prosthetic restoration, it should be noted that the medullary canal of the femur is typically narrow in this syndrome.

literature

J. Huber, JB Volpon, ES Ramos: Fuhrmann syndrome: two Brazilian cases. In: Clinical dysmorphology. Vol. 12, No. 2, April 2003, ISSN 0962-8827 , pp. 85-88, doi : 10.1097 / 01.mcd.0000059772.40218.96 , PMID 12868468 .
FM Aynaci, O. Aynaci, A. Ahmeto? Lu, F. Celep: Fuhrmann syndrome associated with cortical dysplasia. In: Genetic counseling (Geneva, Switzerland). Vol. 12, No. 1, 2001, ISSN 1015-8146 , pp. 49-54, PMID 11332978 .

Individual evidence

↑ ^a ^b ^c Fuhrmann syndrome. In: Orphanet (Rare Disease Database).
^ W. Fuhrmann, A. Fuhrmann-Rieger, F. de Sousa: Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs - a new autosomal recessive syndrome. In: European Journal of Pediatrics. Vol. 133, No. 2, March 1980, ISSN 0340-6199 , pp. 123-129, PMID 7363910 .
^ Fuhrmann syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ KM Girisha, TG Vasudevan, AV Saadi, H. Shah, PM Gopinath, K. Satyamoorthy: Hypoplasia / aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations. In: Clinical dysmorphology. Vol. 20, No. 4, October 2011, ISSN 1473-5717 , pp. 205-209, doi: 10.1097 / MCD.0b013e328348d956 , PMID 21716096 .
↑ MM Al-Qattan, HE Shamseldin, FS Alkuraya: The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. In: Genes. Vol. 516, No. 1, March 2013, ISSN 1879-0038 , pp. 168–170, doi : 10.1016 / j.gene.2012.12.020 , PMID 23266637 .
↑ M. Rittmeister, F. Bischof, M. Starker: Individual cementless hip replacement surgery in a patient with a special form of short stature (Fuhrmann syndrome) In: Zeitschrift für Orthopädie und their border areas. Vol. 138, No. 3, 2000 May-Jun, ISSN 0044-3220 , pp. 235-239, doi : 10.1055 / s-2000-10142 , PMID 10929615 .

[Orpha-1] Fuhrmann syndrome. In: Orphanet (Rare Disease Database).

[2] W. Fuhrmann, A. Fuhrmann-Rieger, F. de Sousa: Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs - a new autosomal recessive syndrome. In: European Journal of Pediatrics. Vol. 133, No. 2, March 1980, ISSN 0340-6199 , pp. 123-129, PMID 7363910 .

[3] Fuhrmann syndrome. In: Online Mendelian Inheritance in Man . (English)

[4] KM Girisha, TG Vasudevan, AV Saadi, H. Shah, PM Gopinath, K. Satyamoorthy: Hypoplasia / aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations. In: Clinical dysmorphology. Vol. 20, No. 4, October 2011, ISSN 1473-5717 , pp. 205-209, doi: 10.1097 / MCD.0b013e328348d956 , PMID 21716096 .

[5] MM Al-Qattan, HE Shamseldin, FS Alkuraya: The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. In: Genes. Vol. 516, No. 1, March 2013, ISSN 1879-0038 , pp. 168–170, doi : 10.1016 / j.gene.2012.12.020 , PMID 23266637 .

[6] M. Rittmeister, F. Bischof, M. Starker: Individual cementless hip replacement surgery in a patient with a special form of short stature (Fuhrmann syndrome) In: Zeitschrift für Orthopädie und their border areas. Vol. 138, No. 3, 2000 May-Jun, ISSN 0044-3220 , pp. 235-239, doi : 10.1055 / s-2000-10142 , PMID 10929615 .